Multiple Autoimmune Disorders & Genetics

[TrudieC]

Thank you so much for joining us here and taking our questions.

When I was 21 I was diagnosed with ulcerative colitis and ten years later I needed the J-pouch surgery due to a bowel perforation.  Several years later I found out I had hypothyroidism (unsure of cause) and less than 2 months ago I was diagnosed with Lupus SLE and Rheumatoid Arthritis.  

My son now has ulcerative colitis and I have recently found out that I had a Grandmother with Porphyria (my mother tests negative), a Grandfather with degenerative spine disease and another Grandmother who was never diagnosed but I'm sure suffered with similiar arthritic like auto-immune issues and did have thyroid disease.  Two of my cousins on that side have ankylosing spondylitis and I know there is more.

Do genetics make us susceptible to all autoimmune disorders or just what has been in the family?  Is it known why some families have such a high percentage of disease?  What is it in some of us that once we get through one autoimmune disorder that we get hit with another one?  I'm finding it quite nervewracking getting through all this and understanding what to worry about and what to ignore.  And my son is getting quite worried about what his future may hold for him on top of the colitis.

Thank you.

[Garth L Nicolson, PhD]

Genetics plays an important role in chronic diseases.  Although we do not understand the specifics of why certain genetic differences contribute to autoimmune and other chronic diseases, several genes and gene clusters have been linked to several specific chronic diseases.  Often these linkages extend to other related diseases as well.  In addition, chronic infections can be passed between family members, and some of those individuals will come down with infection-associated chronic diseases, such as the ones you have described, without the presence of the commonly found genetic links.  For example, when we studied families of veterans who returned from the first Gulf War with a Chronic Fatigue Syndrome-like illness (Gulf War Illness), many of the family members slowly started to get sick as well.  Most but not all of the adults in these families came down with CFS or Fibromyalgia Syndrome, but the young children in these families most often came down with Autism Spectrum Disorders.  The link between these different diagnosed cases was the transmission of Mycoplasma fermentans from the veteran to family members.  More than 90% of the sick family members but not the non-symptomatic family members had the same infection as the veteran in the family.  This occurred even in families without genetic links to the veteran (for example, second marriage with children in the household from the first marriage).  Thus both genetic and non-genetic factors are important in chronic illnesses. ProfGN

[Garth L Nicolson, PhD]

A related discussion, Response to ange57 was started.

[jehansalem]

A related discussion, Help I don't  know what I have, looking for diagnostician was started.

[jmt993]

My 4year old daughter has headaches, abdominal pain & leg pain (mid thigh) but NO fever or rashes. None of these pains are bad enough to take more than Tylenol or Ibuprofen for but we did labwork a month ago and a positive ANA came back 1:160 - the ped. tested it again two weeks later because there are so many false positives and the the number & results were the same. The ped Dr. has also tested for H-pylory/Lead/Thyroid/Rheumatoid Factor and all were fine.

These pains are daily and seem to be increasing lately in  pain level. We can't seem to get an appt. with the Rheumatologist until August and the ped. seems to be ok with that and says this isnt an emergency.

I am worried and not sure if I should be worried or just sit tight. What are your thoughts on this?

[LSherack]

Dear Doctor,
I am really at my wits end. I have been to a number of different doctors for different health issues and no seems to have many answers for me. I have hashimotos disease but wasn't diagnoised with that properly for 10 yrs. The gp just said I had a thyroid problem. It was when I went to a gp who specialised in thyroid disease and had an ultra sound done on my thyroid that we found my thyroid has shrunk to a tiny little size. I went to the is doc for awhile but couldn't afford to continue. But in doing so she put me on thyroid extract along with dhea. I must say I did feel much better. My longtime gp advised me not to stay on the extract and pretty much frightened me from using it.  I am currently on Thyroxine. 150mg Tu,Th & Sat & Sun. And 200mg on M,Wed & F. I also have pernicous anemia and take b12 injections every 3 weeks. I have ostoarthritis in both my feet and my neck. I am also very over weight. But not for trying. I had a gastric band put in 3 yrs ago and have only lost about 25 lbs. I am still trying daily to loose weight. I have some neurological problems but I know this isn't your specialty so won't get into them. I have been reading about Leptin and that along with all the other problems I have there might be a possibility of being Leptin resistant? Have you heard of this and might it be possible? If so, how does one find out. Also what are your views on thyroid extracts? I have also been reading that I should be having my reverse T3 check along with my T4? My last reading on 9 mar 09 for my Free T4 was 17.6 mU/L  &  TSH 0.96 ,U/L the time before (12 dec 08)was Free T4 13.7 and TSH was 4.04. My CRP in 2007 was 5.9 mg/L and in 2008 was 6.7.
This hasn't been tested since. Are these normal, because I really don't feel very good these days. What sort of doctor exactly would I go to help me with these problems?
Thanks for any help you can give me.

[lalaval]

I have this patient, a 17 year old male adolescent came in at the ER drowsy, with maculo-peticheal rashes in both extremities, and fever  for 2 days. History suggest that about 2 weeks prior, patient had OPD consult because of sorethroat and fever, managed as acute tonsillo-pharyngitis which was given co-amoxiclav. Upon examination he was disoriented, absent meningeals with unremarkable neuro exam,  no hepato splenomegly, knee joints were warm to touch with swollen calf asstd with some tenderness on palpation. Electrolytes and abg taken were normal, CBC showed pancytopenia, 3x elevated ESR, CRP 12mgdl, abdominal ultrasound  showed fatty liver. PBS showed pancytopenia, no schiztocytes. LDH and triglycerides showed normal results. Urinalysis did not show any proteinuria and hematuria albeit  its concentrated color.  Initial BUN was elevated but normalized post hydration, creatinine was normal. The patient remained drowsy and disoriented over the next 2 days. On the 4th HD patient sensorium became better, he complained of  upper back and lower back pain, he was continuously febrile, with episodes of headache and blurring of vision on his left eye, BP was 130-120/80. Referral to an opthalmologist showed subretinnal hemorrhages.  CT scan showed maxillary sinusitis.  A referral to rheuma was done,  ANA was negative, C3 was normal but C4 was 3x elevated, MRA showed no aneurysm, presence of  minimal bleeding in the corpus callosum.  Hema-wise, BMA was contemplated but was deferred because of  thrombocytopenia at 60-80,000 despite platelet concentrate transfusion. Referral to infectious specialist was sought, chronic fatigue syndrome probably secondary to EBV infection was entertained.. We were left with no option but to give prednisone.  Now on day 2, fever lysed, patient felt much better, and pancytopenia starts to improve.. We have NO viral studies in our locality to confirm ebv infection.. Were still at a loss at to the diagnosis. And one more thing, this patients drinks a good 6 liter of water everyday and the repeat urinalysis, electrolytes, blood sugar are all normal. Please help us out.

[ange57]

I was diagnosed with ms in february 2009, my neurologist hasn't put me on any medication except for endep 50mg, I don't feel any better, I have been struggling with this for years now,, when I was diagnosed at last it all made sense.  I will go to another neurologist at the end of june for a second opinion.  Please give me your comments, I also had a lumber puncture which was positive for ms, and it also gave other diseases such as neuro aids and other neuro things, please give me your views on this thank you angela